rs1805009, MC1R;TUBB3

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Oculocutaneous albinism type 2
CUI: C0268495
Disease: Oculocutaneous albinism type 2
58 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.700 1.000 1 2015 2015
Skin Pigmentation
CUI: C0037290
Disease: Skin Pigmentation
72 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.700 1.000 1 2015 2015
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
CUI: C4016260
Disease: SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
3 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
515 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.070 0.857 7 2001 2018
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.020 1.000 2 2000 2018
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.020 1.000 2 2002 2008
Congenital Mesoblastic Nephroma
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
5 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.010 1.000 1 2012 2012
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
67 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.010 1.000 1 2002 2002
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.010 1.000 1 2008 2008